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Parcourir par sujet "genetic disorder"

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    • Canine pancytopenia in the Mediterranean - Authors' reply 

      Frezoulis P.S., Angelidou E., Karnezi D., Oikonomidis I.L., Kritsepi-Konstantinou M., Kasabalis D., Mylonakis M.E. (2018)
      [No abstract available]

    • Cognitive deficits in myopathies 

      Peristeri E., Aloizou A.-M., Keramida P., Tsouris Z., Siokas V., Mentis A.-F.A., Dardiotis E. (2020)
      Myopathies represent a wide spectrum of heterogeneous diseases mainly characterized by the abnormal structure or functioning of skeletal muscle. The current paper provides a comprehensive overview of cognitive deficits ...

    • ETV6/RUNX1-positive childhood acute lymphoblastic leukemia (ALL): The spectrum of clonal heterogeneity and its impact on prognosis 

      Ampatzidou Μ., Papadhimitriou S.I., Paterakis G., Pavlidis D., Tsitsikas Κ., Kostopoulos I.V., Papadakis V., Vassilopoulos G., Polychronopoulou S. (2018)
      The prognostic significance of the ETV6/RUNX1-fusion and of the accompanying aberrations is disputable; whether co-existing sub-clones are responsible for delayed MRD-clearance and thus, moderate outcome, remains to be ...

    • Functional characterization of the hGRαT556I causing Chrousos syndrome 

      Nicolaides N.C., Skyrla E., Vlachakis D., Psarra A.-M.G., Moutsatsou P., Sertedaki A., Kossida S., Charmandari E. (2016)
      Background: Chrousos syndrome is a rare pathologic condition characterized by generalized, partial resistance of target tissues to glucocorticoids and caused by inactivating mutations of the human glucocorticoid receptor ...

    • The immunopathogenetic role of autoantibodies in canine autoimmune hepatitis: Lessons to learn from human autoimmune hepatitis 

      Liaskos, C.; Mavropoulos, A.; Orfanidou, T.; Spyrou, V.; Athanasiou, L. V.; Billinis, C. (2012)
      Autoimmune hepatitis (AIH) is not a disease entity restricted to man, but it can be found in other animals including canines. An increasing number of studies have focused on the immunopathogenesis of human autoimmune ...

    • International Consensus on the Use of Genetics in the Management of Hereditary Angioedema 

      Germenis A.E., Margaglione M., Pesquero J.B., Farkas H., Cichon S., Csuka D., Lera A.L., Rijavec M., Jolles S., Szilagyi A., Trascasa M.L., Veronez C.L., Drouet C., Zamanakou M., Andrejevic S., Aygören-Pürsün E., Bara N.-A., Bernstein J., Bork K., Bouillet L., Bova M., Boysen H.H., Bygum A., Caballero T., Castaldo A., Christiansen S., Cicardi M., Fabiani J., Katelaris C., Dewald G., Gökmen N.M., Gonzalez-Quevedo M.T., Gooi J., Grivcheva-Panovska V., Grumach A., Hakl R., Hardy G., Jesenak M., Kaplan A., Kirschfink M., Köhalmi K.V., Leibovich I., Longhurst H.J., Lumry W., Magerl M., Saguer I.M., Nagy I.B., Nieto S., Nordenfelt P., Porębski G., Psarros F., Reshef A., Riedl M.A., Sheikh F., Peter S., Speletas M., Staevska M., Stobiecki M., Triggiani M., Veszeli N., Waserman S., Weber C., Wuillemin W., Zuraw B. (2020)
      Hereditary angioedema (HAE) is becoming much more genetically complex than was initially considered. Thus, the role of HAE genetics is expanding beyond research laboratories, and the genotyping of subjects suffering from ...

    • Management of Descending Thoracic Aortic Diseases: Similarities and Differences Among Cardiovascular Guidelines 

      Spanos K., Nana P., Behrendt C.-A., Kouvelos G., Panuccio G., Heidemann F., Matsagkas M., Debus E.S., Giannoukas A., Kölbel T. (2021)
      Cardiovascular societies have developed recommendations regarding the management of thoracic aortic diseases. While improvements in treatment have been observed during the past decade in regard to patient selection, thoracic ...

    • Network analysis of genes and their association with diseases 

      Kontou P.I., Pavlopoulou A., Dimou N.L., Pavlopoulos G.A., Bagos P.G. (2016)
      A plethora of network-based approaches within the Systems Biology universe have been applied, to date, to investigate the underlying molecular mechanisms of various human diseases. In the present study, we perform a ...